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Neurogenetics|October 5, 2021
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genesRaffaella Brugnoni, Eleonora Canioni, Massimiliano Filosto, et al.Neurogenetics|October 11, 2017
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotoniaLorenzo Maggi, Sabrina Ravaglia, Alessandro Farinato, et al.Experimental Neurology|January 31, 2023
Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional studyVeria Vacchiano, Raffaella Brugnoni, Carmen Campanale, et al.Journal of Human Genetics|June 7, 2013
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 geneRaffaella Brugnoni, Dimos Kapetis, Paola Imbrici, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 17, 2018
Italian recommendations for diagnosis and management of congenital myasthenic syndromesLorenzo Maggi, Pia Bernasconi, Adele D'Amico, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 22, 2016
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathiesPaola Imbrici, Concetta Altamura, Giulia Maria Camerino, et al.Communications Medicine|April 4, 2024
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine responseMartina Esposito, Francesca Minnai, Massimiliano Copetti, et al.Neuromuscular Disorders : NMD|February 12, 2021
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patientsRaffaella Brugnoni, Lorenzo Maggi, Eleonora Canioni, et al.Frontiers in Neurology|August 28, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian PatientsLorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, et al.Pageof 2